ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003128098 SCV003804253 likely pathogenic Joubert syndrome 9 2023-01-23 criteria provided, single submitter clinical testing

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